Linked Data
ClinVar Variation Id:
153
ClinVar RCV Id:
RCV000000176
dbSNP Id:
rs121965040
ExAC:
10:126094114 C / G
gnomAD v2:
10-126094114-C-G
gnomAD v3:
10-124405545-C-G
gnomAD v4:
10-124405545-C-G
PubMed:
PMID:3170546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124405545C>G , CM000672.2:g.124405545C>G | GRCh38 |
| NC_000010.10:g.126094114C>G , CM000672.1:g.126094114C>G | GRCh37 |
| NC_000010.9:g.126084104C>G | NCBI36 |
| NG_008861.1:g.18406G>C , LRG_685:g.18406G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.539G>C MANE Select | ENSP00000357838.5:p.Arg180Thr | |
| ENST00000368845.5:c.539G>C | ENSP00000357838.5:p.Arg180Thr | |
| ENST00000467675.5:n.340G>C | ||
| ENST00000483711.1:n.385G>C | ||
| ENST00000539214.5:c.125G>C | ENSP00000439042.1:p.Arg42Thr | |
| NM_000274.3:c.539G>C , LRG_685t1:c.539G>C | NP_000265.1:p.Arg180Thr | |
| NM_001171814.1:c.125G>C | NP_001165285.1:p.Arg42Thr | |
| XM_006717871.2:c.539G>C | XP_006717934.1:p.Arg180Thr | |
| XM_011539833.1:c.539G>C | XP_011538135.1:p.Arg180Thr | |
| XM_011539834.1:c.539G>C | XP_011538136.1:p.Arg180Thr | |
| NM_001322965.1:c.539G>C | NP_001309894.1:p.Arg180Thr | |
| NM_001322966.1:c.539G>C | NP_001309895.1:p.Arg180Thr | |
| NM_001322967.1:c.539G>C | NP_001309896.1:p.Arg180Thr | |
| NM_001322968.1:c.539G>C | NP_001309897.1:p.Arg180Thr | |
| NM_001322969.1:c.539G>C | NP_001309898.1:p.Arg180Thr | |
| NM_001322970.1:c.539G>C | NP_001309899.1:p.Arg180Thr | |
| NM_001322971.1:c.218G>C | NP_001309900.1:p.Arg73Thr | |
| NM_001322974.1:c.-62G>C | NP_001309903.1:n.-62G>C | |
| XM_017016279.1:c.-62G>C | XP_016871768.1:n.-62G>C | |
| NM_000274.4:c.539G>C MANE Select | NP_000265.1:p.Arg180Thr | |
| NM_001322965.2:c.539G>C | NP_001309894.1:p.Arg180Thr | |
| NM_001322966.2:c.539G>C | NP_001309895.1:p.Arg180Thr | |
| NM_001322967.2:c.539G>C | NP_001309896.1:p.Arg180Thr | |
| NM_001322968.2:c.539G>C | NP_001309897.1:p.Arg180Thr | |
| NM_001322969.2:c.539G>C | NP_001309898.1:p.Arg180Thr | |
| NM_001322970.2:c.539G>C | NP_001309899.1:p.Arg180Thr | |
| NM_001322971.2:c.218G>C | NP_001309900.1:p.Arg73Thr | |
| NM_001322974.2:c.-62G>C | NP_001309903.1:n.-62G>C | |
| NM_001171814.2:c.125G>C | NP_001165285.1:p.Arg42Thr |